Bikunin and alpha(1)-microglobulin/bikunin precursor (AMBP) gene mutational screening in patients with kidney stones: a case-control study.

Yazan: admin Tarih: Tem 23rd, 2010 | Kategori:: Gene polymorphisms

Scand J Urol Nephrol. 2010 Jul 5.

Igci M, Arslan A, Igci YZ, Gogebakan B, Erturhan MS, Cengiz B, Oztuzcu S, Cakmak EA, Demiryurek AT.

Department of Medical Biology.

Abstract

Abstract Objective. Bikunin is an inhibitor of kidney stone formation synthesized in the liver together with alpha(1)-microglobulin from the alpha(1)-microglobulin/bikunin precursor (AMBP) gene. The aim of this study was to investigate the possible association between bikunin/AMBP gene polymorphisms and urinary stone formation. Material and methods. To analyse the DNA, blood samples were taken from 75 kidney stone formers who had a familial stone history, 35 sporadic stone formers and 101 healthy individuals. Four exons of bikunin gene and five parts of the promoter region of the AMBP gene were screened using single-strand conformation polymorphism and nucleotide sequence analysis. Results. The Init-2 region of the promoter of AMBP gene had polymorphisms at positions -218 and -189 nt giving three different genotypes having 1,3, 2,4 and 1,2,3,4 alleles with frequencies of 17.06%, 60.19% and 22.75%, respectively, in all groups. Therefore, the Init-2 region appears to be polymorphic. As a result, the 1,3 allele has -218G and -189T complying with the reference database sequence, the 2,4 allele has -218G and T-189C substitution and the allele 1,2,3,4 genotype has substitutions at positions G-218C and T-189C. Conclusions. There were no significant differences in allele distribution between patients and controls. These common alleles exist in the Turkish population independent of stone formation. These results are the first to demonstrate the existence of bikunin and AMBP promoter polymorphism. Although the Init-2 region of the AMBP gene is the binding site for various transcription factors, the results showed no association between these observed genotypes and stone-forming phenotypes.


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Cyclooxygenase-2 gene and lung carcinoma risk.

Yazan: admin Tarih: Tem 23rd, 2010 | Kategori:: Lung cancer (Akciğer Kanseri)

Med Oncol. 2010 Jul 20.

Coskunpinar E, Eraltan IY, Turna A, Agachan B.

Department of Molecular Medicine, Institute of Experimental Medicine Research, Istanbul University, Vakif Gureba cad, Capa, 34093, Istanbul, Turkey.

Abstract

In this study, we aimed to investigate a possible association of the COX-2 polymorphisms with the risk of developing lung carcinoma. COX-2 (-765G–>C; -1195A–>G) gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism in 118 healthy individuals and 231 patients with lung carcinoma. The present study was the first that addressed the role of the COX-2-765G–>C and -1195A–>G polymorphisms in lung carcinoma in Turkish population. In the present study, we found that the frequencies of GG, CC, and CG genotypes of COX-2-765G–>C and AA, GG, and AG genotypes of -1195A–>G in our control group were 0.22, 0.22, 0.55 and 0.59, 0.0, 0.40, respectively. These frequencies in patient group were 0.34, 0.07, 0.58 and 0.74, 0.04, 0.24, respectively. There were statistically significant differences in COX-2-765G–>C (P = 0.0002) and -1195A–>G genotypes (P = 0.007) between the controls and patients. We found that individuals carrying -765 GG genotype and -765 G allele of COX-2 or 1195 AA genotype of COX-2 and -765G: -1195A haplotype had an increased risk for the development of lung carcinoma. In contrast, individuals with -765 CC, -1195 AG genotypes and -1195 G allele of COX-2 seem to be protective from lung carcinoma. We suggest that the COX-2-765G–>C and -1195A–>G genotypes may be a risk factor for lung carcinoma.


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Association of Serotonin 2A Receptor and Lack of Association of CYP1A2 Gene Polymorphism with Tardive Dyskinesia in a Turkish Population

Yazan: admin Tarih: Nis 22nd, 2009 | Kategori:: Tardive Dyskinesia
To cite this paper:
Omer Boke, Sezgin Gunes, Nurten Kara, Servet Aker, Ahmet Rifat Sahin, Yildiz Basar, Hasan Bagci. DNA and Cell Biology. August 2007, 26(8): 527-531. doi:10.1089/dna.2007.0605.

Full Text: • PDF for printing (73.7 KB) • PDF w/ links (114.4 KB)

Omer Boke

Department of Psychiatry, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Sezgin Gunes

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Nurten Kara

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Servet Aker

Department of Public Health, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Ahmet Rifat Sahin

Department of Psychiatry, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Yildiz Basar

Psikotem Private Psychiatry Center, Samsun, Turkey.
Hasan Bagci

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

The aim of this study was to investigate the possible association of serotonin 2A receptor gene (HTR2A) −1438 G/A polymorphism and CYP1A2 gene 163C/A polymorphism with tardive dyskinesia (TD) in a Turkish population. A total of 47 patients with persistent TD, 80 patients who were consistently without TD, and 100 healthy controls were included in this study. The polymorphic regions of −1438 G/A polymorphism of HTR2A receptor gene (rs6311) and 163C/A of CYP1A2 (rs762551) gene were amplified using polymerase chain reaction (PCR), followed by digestion with restriction enzymes MspI and Bsp1201. Genotype and allele frequencies were calculated by the χ2-test. Crude and adjusted odds ratios (ORs) were estimated, and 95% confidence intervals (CIs) were computed by multivariate logistic regression analysis. The genotype and allele frequencies of HTR2A and CYP1A2 gene were similar in schizophrenia with TD, schizophrenia without TD, and healthy controls. The logistic regression analysis showed that cumulative exposure to antipsychotic drugs for every year (p = 0.003; OR = 1.15; CI = 1.07–1.23), and AA genotype of HTR2A gene (p = 0.0258; OR = 4.34; CI = 1.19–15.81) are risk factors for TD. The same logistic regression model showed no association between CYP1A2 polymorphism and TD. The results of the present study seem to indicate that HTR2A gene polymorphism influences the tendency to express TD following prolonged antipsychotic drug exposure in Turkish schizophrenia patients.


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Possible association of the 5-HTTLPR serotonin transporter promoter gene polymorphism with PE in a Turkish population.

Yazan: admin Tarih: Mar 8th, 2009 | Kategori:: Kategorilenmemiş
Ozbek E, Tasci AI, Tugcu V, Ilbey YO, Simsek A, Ozcan L, Polat EC, Koksal V.

1Department of Urology, Bezm-i Alem Valide Sultan Vakif Gureba Research and Education Hospital, Istanbul 34095, Tukey.

We evaluated the genotypes of the serotonin transporter gene (5-HTT) in patients with premature ejaculation (PE) to determine the role of genetic factors in the etiopathogenesis of PE and possibly to identify the patient subgroups. A total of 70 PE patients and 70 controls were included in this study. All men were heterosexual, had no other disorders and were either married or in a stable relationship. PE was defined as ejaculation that occurred within 1 min of vaginal intromission. Genomic DNA from patients and controls was analyzed using polymere chain reaction, and allelic variations of the promoter region of the serotonin transporter gene (5-HTTLPR) were determined. The 5-HTTLPR (serotonin transporter promoter gene) genotypes in PE patients vs. controls were distributed as follows: L/L 16% vs. 17%, L/S 30% vs. 53% and S/S 54% vs. 28%. We examined the haplotype analysis for three polymorphisms of the 5-HTTLPR gene: LL, LS and SS. The appropriateness of the allele frequencies in the 5-HTTLPR gene was analyzed by the Hardy-Weinberg equilibrium using the chi(2)-test. The short (S) allele of the 5-HTTLPR gene was significantly more frequent in PE patients than in controls (P < 0.05). We suggest that the 5-HTTLPR gene plays a role in the pathophysiology of all primary PE cases. Further studies are needed to evaluate the relationship between 5-HTTLPR gene polymorphism and patient subgroup (such as primary and secondary PE) responses to selective serotonin reuptake inhibitors as well as ethnic differences.Asian Journal of Andrology advance online publication, 2 March 2009; doi: 10.1038/aja.2008.3.


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